Cargando…
A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report
BACKGROUND: The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulati...
Autores principales: | Al-Haidary, Adel S., Alotaibi, Wadha, Alhaider, Sami A., Al-Saleh, Suhail |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414320/ https://www.ncbi.nlm.nih.gov/pubmed/28464852 http://dx.doi.org/10.1186/s13256-017-1285-4 |
Ejemplares similares
-
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
por: Suzuki, Takuji, et al.
Publicado: (2008) -
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
por: Hildebrandt, Jenna, et al.
Publicado: (2014) -
Neutralization and clearance of GM-CSF by autoantibodies in pulmonary alveolar proteinosis
por: Piccoli, Luca, et al.
Publicado: (2015) -
Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption
por: Chiu, Chih-Yung, et al.
Publicado: (2017) -
GM-CSF Autoantibody-positive Pulmonary Alveolar Proteinosis with Simultaneous Myeloproliferative Neoplasm
por: Imoto, Naoto, et al.
Publicado: (2017)